ClinVar for MedGen (Select 375127) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022774	NM_006158.5(NEFL):c.864C>A (p.Thr288=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 3022773	NM_006158.5(NEFL):c.865_871del (p.Glu289fs)	NEFL (E289fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2E	GPathogenic
Select item 3022552	NM_006158.5(NEFL):c.636C>T (p.Arg212=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 3014875	NM_006158.5(NEFL):c.29A>C (p.Tyr10Ser)	NEFL (Y10S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 3005638	NM_006158.5(NEFL):c.1365G>A (p.Glu455=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2999150	NM_006158.5(NEFL):c.1047C>G (p.Asp349Glu)	LOC126860330, NEFL (D349E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2999149	NM_006158.5(NEFL):c.1065A>T (p.Glu355Asp)	LOC126860330, NEFL (E355D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2996572	NM_006158.5(NEFL):c.542A>C (p.Glu181Ala)	NEFL (E181A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2983213	NM_006158.5(NEFL):c.194T>G (p.Met65Arg)	NEFL (M65R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2968936	NM_006158.5(NEFL):c.1080C>A (p.Thr360=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2959999	NM_006158.5(NEFL):c.1169+20G>T	NEFL	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2956992	NM_006158.5(NEFL):c.365T>G (p.Leu122Arg)	NEFL (L122R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2919136	NM_006158.5(NEFL):c.109C>T (p.Arg37Cys)	NEFL (R37C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2916833	NM_006158.5(NEFL):c.331C>G (p.Leu111Val)	NEFL (L111V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2914486	NM_006158.5(NEFL):c.598G>A (p.Asp200Asn)	NEFL (D200N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2914346	NM_006158.5(NEFL):c.1514C>T (p.Ala505Val)	NEFL (A505V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2907081	NM_006158.5(NEFL):c.1471G>C (p.Ala491Pro)	NEFL (A491P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2904396	NM_006158.5(NEFL):c.533A>G (p.Tyr178Cys)	NEFL (Y178C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2903166	NM_006158.5(NEFL):c.94G>C (p.Gly32Arg)	NEFL (G32R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2899140	NM_006158.5(NEFL):c.287A>T (p.Asp96Val)	NEFL (D96V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2898300	NM_006158.5(NEFL):c.48G>C (p.Arg16=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2898299	NM_006158.5(NEFL):c.54C>T (p.Tyr18=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2898298	NM_006158.5(NEFL):c.114A>T (p.Ser38=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2895389	NM_006158.5(NEFL):c.841A>G (p.Lys281Glu)	NEFL (K281E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2894403	NM_006158.5(NEFL):c.763T>C (p.Ser255Pro)	NEFL (S255P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2893770	NM_006158.5(NEFL):c.639C>T (p.Ile213=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2892182	NM_006158.5(NEFL):c.108A>G (p.Ala36=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2892181	NM_006158.5(NEFL):c.594C>G (p.Gly198=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2892180	NM_006158.5(NEFL):c.609G>T (p.Ala203=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2892179	NM_006158.5(NEFL):c.615T>C (p.Ala205=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2891546	NM_006158.5(NEFL):c.748A>C (p.Thr250Pro)	NEFL (T250P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2890178	NM_006158.5(NEFL):c.88C>A (p.Arg30Ser)	NEFL (R30S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2884862	NM_006158.5(NEFL):c.1525G>A (p.Glu509Lys)	NEFL (E509K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2867112	NM_006158.5(NEFL):c.422A>C (p.Gln141Pro)	NEFL (Q141P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2860579	NM_006158.5(NEFL):c.836G>T (p.Trp279Leu)	NEFL (W279L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2853722	NM_006158.5(NEFL):c.1018C>G (p.Gln340Glu)	NEFL (Q340E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2850197	NM_006158.5(NEFL):c.993G>A (p.Lys331=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2841494	NM_006158.5(NEFL):c.210C>T (p.Asn70=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2838458	NM_006158.5(NEFL):c.1240dup (p.Gln414fs)	NEFL (Q414fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 2E	GPathogenic
Select item 2835758	NM_006158.5(NEFL):c.940_945del (p.Ala314_Lys315del)	NEFL	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2832071	NM_006158.5(NEFL):c.682G>A (p.Glu228Lys)	NEFL (E228K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2814830	NM_006158.5(NEFL):c.1597G>T (p.Ala533Ser)	NEFL (A533S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2806841	NM_006158.5(NEFL):c.1045-14T>C	LOC126860330, NEFL	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2805924	NM_006158.5(NEFL):c.514C>T (p.Arg172Cys)	NEFL (R172C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2804039	NM_006158.5(NEFL):c.1166A>C (p.Tyr389Ser)	LOC126860330, NEFL (Y389S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2797904	NM_006158.5(NEFL):c.556G>C (p.Glu186Gln)	NEFL (E186Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2795210	NM_006158.5(NEFL):c.1247C>T (p.Ser416Phe)	NEFL (S416F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2789611	NM_006158.5(NEFL):c.1050G>A (p.Thr350=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2778816	NM_006158.5(NEFL):c.236T>A (p.Ile79Asn)	NEFL (I79N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2777415	NM_006158.5(NEFL):c.46C>T (p.Arg16Trp)	NEFL (R16W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2764364	NM_006158.5(NEFL):c.818T>C (p.Met273Thr)	NEFL (M273T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2761390	NM_006158.5(NEFL):c.1026C>A (p.Ala342=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2754954	NM_006158.5(NEFL):c.1156A>G (p.Ile386Val)	LOC126860330, NEFL (I386V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2742630	NM_006158.5(NEFL):c.1236C>T (p.Tyr412=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2735144	NM_006158.5(NEFL):c.932T>C (p.Leu311Pro)	NEFL (L311P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2735143	NM_006158.5(NEFL):c.1150A>T (p.Ile384Phe)	LOC126860330, NEFL (I384F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GPathogenic
Select item 2732951	NM_006158.5(NEFL):c.1489+17C>G	NEFL	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2732508	NM_006158.5(NEFL):c.1097C>T (p.Ala366Val)	LOC126860330, NEFL (A366V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2728116	NM_006158.5(NEFL):c.1489+16A>T	NEFL	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2726040	NM_006158.5(NEFL):c.288C>T (p.Asp96=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2724075	NM_006158.5(NEFL):c.503A>G (p.Glu168Gly)	NEFL (E168G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2721350	NM_006158.5(NEFL):c.1576G>A (p.Glu526Lys)	NEFL (E526K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2709445	NM_006158.5(NEFL):c.586C>A (p.Arg196Ser)	NEFL (R196S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2704396	NM_006158.5(NEFL):c.968G>A (p.Arg323Gln)	NEFL (R323Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2700596	NM_006158.5(NEFL):c.1332del (p.Ser445fs)	NEFL (S445fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2664371	NM_006158.5(NEFL):c.292A>G (p.Asn98Asp)	NEFL (N98D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GConflicting classifications of pathogenicity
Select item 2658488	NM_006158.5(NEFL):c.194T>C (p.Met65Thr)	NEFL (M65T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 2506825	NM_006158.5(NEFL):c.1262G>A (p.Arg421Gln)	NEFL (R421Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 2505189	NM_006158.5(NEFL):c.1124T>A (p.Leu375His)	LOC126860330, NEFL (L375H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2430271	NM_006158.5(NEFL):c.259C>T (p.Arg87Cys)	NEFL (R87C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2425517	NC_000008.10:g.(?_24810323)_(24811839_?)del	NEFL	Deletion	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2425516	NC_000008.10:g.(?_24810323)_(25892142_?)del	CDCA2, DOCK5 +4 more	Deletion	Charcot-Marie-Tooth disease type 2E	GPathogenic
Select item 2229617	NM_006158.5(NEFL):c.581A>G (p.Glu194Gly)	NEFL (E194G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2199725	NM_006158.5(NEFL):c.1044+15G>C	NEFL	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2193190	NM_006158.5(NEFL):c.958G>A (p.Glu320Lys)	NEFL (E320K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2188761	NM_006158.5(NEFL):c.1044+2T>G	NEFL	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease type 2E	GLikely pathogenic
Select item 2177865	NM_006158.5(NEFL):c.491G>A (p.Arg164His)	NEFL (R164H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2176883	NM_006158.5(NEFL):c.193A>G (p.Met65Val)	NEFL (M65V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2175857	NM_006158.5(NEFL):c.1502_1503del (p.Glu501fs)	NEFL (E501fs)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2154888	NM_006158.5(NEFL):c.263C>A (p.Thr88Lys)	NEFL (T88K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2154625	NM_006158.5(NEFL):c.918C>T (p.Ser306=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2154340	NM_006158.5(NEFL):c.494A>C (p.Glu165Ala)	NEFL (E165A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2143185	NM_006158.5(NEFL):c.873C>A (p.Ala291=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2139506	NM_006158.5(NEFL):c.104C>T (p.Thr35Ile)	NEFL (T35I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2136651	NM_006158.5(NEFL):c.1166A>G (p.Tyr389Cys)	LOC126860330, NEFL (Y389C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GLikely pathogenic
Select item 2129904	NM_006158.5(NEFL):c.1248C>T (p.Ser416=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2124937	NM_006158.5(NEFL):c.551G>A (p.Ser184Asn)	NEFL (S184N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2121061	NM_006158.5(NEFL):c.1128C>A (p.Leu376=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2119922	NM_006158.5(NEFL):c.935T>C (p.Leu312Pro)	NEFL (L312P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2115105	NM_006158.5(NEFL):c.1125C>T (p.Leu375=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 2109352	NM_006158.5(NEFL):c.789G>A (p.Ala263=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2103483	NM_006158.5(NEFL):c.867G>C (p.Glu289Asp)	NEFL (E289D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2103207	NM_006158.5(NEFL):c.200G>A (p.Ser67Asn)	NEFL (S67N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2102993	NM_006158.5(NEFL):c.1009G>C (p.Glu337Gln)	NEFL (E337Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2101271	NM_006158.5(NEFL):c.531C>T (p.Arg177=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2097210	NM_006158.5(NEFL):c.1127T>C (p.Leu376Pro)	LOC126860330, NEFL (L376P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2090590	NM_006158.5(NEFL):c.1272del (p.Ala423_Tyr424insTer)	NEFL	Deletion (nonsense)	Charcot-Marie-Tooth disease type 2E	GPathogenic
Select item 2088318	NM_006158.5(NEFL):c.475_996del (p.Ala159_Gln332del)	NEFL	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2074655	NM_006158.5(NEFL):c.126C>G (p.Ser42Arg)	NEFL (S42R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 2067835	NM_006158.5(NEFL):c.793T>A (p.Tyr265Asn)	NEFL (Y265N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GLikely pathogenic

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